Usher syndrome as the most frequent cause of coexisting sight and hearing disorders genetically determined

Journal Title: Polski Przegląd Otorynolaryngologiczny - Year 2016, Vol 5, Issue 1

Abstract

Usher syndrome is the most frequent cause of coexisting sight and hearing disorders genetically determined. Depending on the type of the symptoms, we can single out 3 types of Usher syndrome. Among them the most ad-vanced changes are described in first type. In final stage it leads to deafness and blindness with possible balance dis-orders.This syndome is inherited in autosomal recessive way, but we have to note the occurence of genetical heterogeneity. It causes big diversity of symptoms intensification. Correct diagnosis is important in view of giving genetical advice and eventual diagnostic and terapeutic procedure.

Authors and Affiliations

Barbara Jamróz, Maria Pabian, Magdalena Lachowska,, Kazimierz Niemczyk

Keywords

Related Articles

Launching of a cochlear implant program at the Cracow Otolaryngology Clinic

Introduction: It is estimated that hearing impediment affects approximately 12% of the population. Some forms of hearing disorders can be successfully treated conservatively, while in others surgery plays a key role. Oft...

Rzadki przypadek nowotworów mnogich neurogennych przestrzeni przygardłowej

Guzy przestrzeni przygardłowej występują rzadko i stanowią mniej niż 1% guzów głowy i szyi. W ok. 20% to guzy neurogenne, z czego najczęściej są to nerwiaki osłonkowe i paraganglioma. Autorzy prezentują przypadek 64-letn...

Interdisciplinary treatment and rehabilitation based on the point electrostimulation in the patient with hemangioma mass on the floor of the oral cavity

Tongue hemangiomas usually originate from the vascular system. They are spherical in shape and often result in a significant mass increase and swelling of the tissues in the vicinity of the lips (the so-called cavernous...

Wykorzystanie terapii adaptacyjnej w rehabilitacji zaburzeń połykania

Zaburzenia połykania stanowią problem interdyscyplinarny, a w terapii pacjentów powinni uczestniczyć zarówno lekarze różnych specjalności, logopedzi, rehabilitanci, jak i dietetycy. Zadaniem logopedów i rehabilitantów je...

Selected issues about diagnosis and treatment of the oral mucose membrane

Authors, based on current literature and their own clinical practice, have reported the most common oral mucosal lesions, with their clinical presentation, diagnosis and treatment.

Download PDF file
  • EP ID EP187131
  • DOI -
  • Views 180
  • Downloads 0

How To Cite

Barbara Jamróz, Maria Pabian, Magdalena Lachowska, , Kazimierz Niemczyk (2016). Usher syndrome as the most frequent cause of coexisting sight and hearing disorders genetically determined. Polski Przegląd Otorynolaryngologiczny, 5(1), 41-46. https://europub.co.uk/articles/-A-187131